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Background: Agalsidase beta, an enzyme replacement therapy for Fabry disease, is dosed biweekly at 1 mg/kg body weight, with increasing infusion rates based on tolerability. The US label specifies ≥ 90-min infusions for all patients; the US and EU labels require ≤ 15 mg/hr infusions in patients < 30 kg. The Japanese label allows infusions up to 30 mg/hr, allowing < 90-min dosing for some patients weighing < 45 kg.

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Article Synopsis
  • Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the buildup of substances in cells, and their prevalence in Japan was previously unknown.
  • A nationwide survey gathered data from 504 medical institutions, resulting in responses from 303, to estimate the total number of patients with these disorders in Japan.
  • Findings indicated that Fabry disease had the highest estimated patient count (1,658), while other disorders like Gaucher and Pompe had fewer patients, and birth prevalence rates were calculated for each disorder.
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